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Items: 1 to 20 of 139

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7095031copy number variation2nstd102humanPathogenic GRCh37 chr16: 56,226,148-58,768,132 , GRCh38.p12 chr16: 56,192,236-58,734,228 MT1B, LOC105371293, 92 more genes
    nsv7068141inversion1nstd229human GRCh38 chr16: 56,038,949-56,473,255 , GRCh37.p13 chr16: 56,072,861-56,507,167 AMFR, GNAO1-DT, 9 more genes
    nsv7063904inversion1nstd229human GRCh38 chr16: 54,352,554-57,044,545 , GRCh37.p13 chr16: 54,386,466-57,078,457 LOC102725116, OGFOD1, 65 more genes
    nsv7060902inversion1nstd229human GRCh38 chr16: 56,473,236-56,531,331 , GRCh37.p13 chr16: 56,507,148-56,565,243 BBS2, LOC105371283, 1 more genes
    nsv6995406copy number variation1nstd229human GRCh38 chr16: 56,474,574-56,481,297 , GRCh37.p13 chr16: 56,508,486-56,515,209 BBS2, OGFOD1
    nsv6985728copy number variation1nstd229human GRCh38 chr16: 56,455,326-56,455,741 , GRCh37.p13 chr16: 56,489,238-56,489,653 OGFOD1
    nsv6981244copy number variation1nstd229human GRCh38 chr16: 56,450,147-56,450,739 , GRCh37.p13 chr16: 56,484,059-56,484,651 NUDT21, OGFOD1
    nsv6980529copy number variation1nstd229human GRCh38 chr16: 56,459,401-56,461,000 , GRCh37.p13 chr16: 56,493,313-56,494,912 OGFOD1
    nsv6637586copy number variation1nstd102humanPathogenic GRCh37 chr16: 46,503,573-62,203,182 , GRCh38.p12 chr16: 46,469,661-62,169,278 LINC02140, LOC100130602, 279 more genes
    nsv6578860inversion1nstd223human GRCh38 chr16: 56,467,692-56,468,590 , GRCh37.p13 chr16: 56,501,604-56,502,502 BBS2, OGFOD1
    nsv6515292copy number variation1nstd223human GRCh38 chr16: 56,474,066-56,474,472 , GRCh37.p13 chr16: 56,507,978-56,508,384 OGFOD1, BBS2
    nsv6503237copy number variation1nstd223human GRCh38 chr16: 56,457,943-56,465,265 , GRCh37.p13 chr16: 56,491,855-56,499,177 OGFOD1
    nsv6315060copy number variation1nstd102humanPathogenic GRCh38 chr16: 53,818,483-57,631,312 , GRCh37.p13 chr16: 53,852,395-57,665,224 LOC105371283, MT1A, 91 more genes
    nsv6314755copy number variation1nstd102humanPathogenic GRCh37 chr16: 46,503,968-90,155,062 , GRCh38.p12 chr16: 46,470,056-90,088,654 ATMIN, ATP6V0D1, 826 more genes
    nsv6314043copy number variation1nstd102humanUncertain significance GRCh37 chr16: 56,269,138-56,618,661 , GRCh38.p12 chr16: 56,235,226-56,584,749 MT4, MIR3935, 6 more genes
    nsv6250307mobile element insertion1nstd215human GRCh38 chr16: 56,454,508-56,454,508 , GRCh37.p13 chr16: 56,488,420-56,488,420 OGFOD1
    nsv6133200copy number variation1nstd213human GRCh37 chr16: 46,460,000-84,740,001 , GRCh38.p12 chr16: 46,426,088-84,706,395 , AARS1, 674 more genes
    nsv6112700copy number variation1nstd102humanPathogenic GRCh38 chr16: 46,385,317-61,223,349 , GRCh37.p13 chr16: 46,419,229-61,257,253 CPNE2, USB1, 275 more genes
    nsv5522837copy number variation1nstd206human GRCh38 chr16: 56,476,685-56,476,834 , GRCh37.p13 chr16: 56,510,597-56,510,746 OGFOD1, BBS2
    nsv5356989translocation1nstd200human GRCh38 chr16: 56,466,496-56,466,496 , GRCh38 chr13: 82,013,783-82,013,783 , GRCh37.p13 chr13: 82,587,918-82,587,918 , GRCh37.p13 chr16: 56,500,408-56,500,408 OGFOD1
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